Analysis of lincRNA at 13q32 keratoconus locus

Purpose Keratoconus (KC) is a disease of the eye characterized by thinning and protrusion of the cornea. The causes of KC remain unknown. Our mutation screening of genes from 13q32 KC locus have revealed substitution in STK24 showing 100% segregation with KC phenotype in the Ecuadorian family. To continue the KC causes search, some non-coding RNA from 13q32 locus were selected for further molecular analysis. Here, we present sequencing results of lincRNA localized ~1kb from 5’ end of STK24. Methods The lincRNA was screen by sequencing technique using DNA samples from 23 members of KC-014 family and selected affected and unaffected individuals from Ecuador. Results Sequencing analysis of lincRNA localized ~1kb from 5’ end of STK24 have revealed g.99230266C>T substitution showing segregation with KC phenotype in the Ecuadorian KC-014 family. Conclusion Mutation analysis of lincRNA mapped at the 13q32 locus have revealed sequence alteration segregating with the KC phenotype in Ecuadorian family. Since it is known, that lincRNAs are co-expressed with neighboring coding genes and may function as a regulator of epigenetic marks and gene expression, we suggest that this lincRNA localized in close proximity to STK24 gene might play a role in development and/or progression of familial KC in patients from Ecuador. To our knowledge, this is the first report presenting lincRNA analysis in KC. Support: Polish Ministry of Science and Higher Education, Grant NN402591740